ClinVar Miner

List of variants in gene CEP135 reported as uncertain significance for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_025009.5(CEP135):c.638T>C (p.Val213Ala) rs150331261 0.00236
NM_025009.5(CEP135):c.993A>T (p.Arg331Ser) rs140748251 0.00027
NM_025009.5(CEP135):c.2534T>C (p.Val845Ala) rs141330867 0.00011
NM_025009.5(CEP135):c.2458A>G (p.Asn820Asp) rs748666352 0.00003
NM_025009.5(CEP135):c.3346C>T (p.Arg1116Ter) rs953311582 0.00001
NM_025009.5(CEP135):c.575A>T (p.Asp192Val) rs1324886097 0.00001
NM_025009.5(CEP135):c.1824A>C (p.Lys608Asn)
NM_025009.5(CEP135):c.231A>C (p.Arg77Ser) rs1728412496

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